Varaico: Literature-Extracted Genetic Variants

USP20

79 papers

RefSeq Summary

This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubi...

Pfam Domains

zf-UBPaa 30–95UCSCZn-finger in ubiquitin-hydrolases and other protein

UCHaa 145–682UCSCUbiquitin carboxyl-terminal hydrolase

DUSPaa 707–780UCSCDUSP domain

DUSPaa 814–891UCSCDUSP domain

Gene Aliases

HGNC Name

ubiquitin specific peptidase 20

HGNC Alias Symbol

KIAA1003

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001110303.4

p.P410insFs

c.1229dupC

Surrounding Variants

1 paper

NM_001110303.4

p.R411fs

c.1231_1232fs

1 paper

NM_001110303.4

p.M417L

c.1249A>C

1 paper

NM_001110303.4

p.M417L

c.1249A>T

1 paper

NM_001110303.4

p.H399P

c.1196A>C

1 paper

NM_001110303.4

p.M417R

c.1250T>G

2 papers

NM_001110303.4

p.R391C

c.1171C>T

1 paper

NM_001110303.4

p.E438K

c.1312G>A

1 paper

NM_001110303.4

p.V444I

c.1330G>A

1 paper

NM_001110303.4

p.S455T

c.1364G>C

1 paper

NM_001110303.4

p.E379Splc

c.1135+5C>T

1 paper

NM_001110303.4

p.R376Q

c.1127G>A

2 papers

NM_001110303.4

p.R370W

c.1108C>T